Canonical Allele Identifier: CA574300455

Gene: DDC

Linked Data

• dbSNP Id: rs1172708605
• gnomAD v2: 7-50628776-ACAG-A
• gnomAD v3: 7-50561079-ACAG-A
• gnomAD v4: 7-50561079-ACAG-A
• MyVariant Identifiers: chr7:g.50628777_50628779del (hg19) ; chr7:g.50561080_50561082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50561080_50561082del , CM000669.2:g.50561080_50561082del	GRCh38
NC_000007.13:g.50628777_50628779del , CM000669.1:g.50628777_50628779del	GRCh37
NC_000007.12:g.50596271_50596273del	NCBI36
NG_008742.1:g.9376_9378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.-29+4203_-29+4205del MANE Select	ENSP00000403644.2:n.-29+4203_-29+4205del
ENST00000420203.1:c.-29+2913_-29+2915del	ENSP00000408626.1:n.-29+2913_-29+2915del
ENST00000444124.6:c.-29+4203_-29+4205del	ENSP00000403644.2:n.-29+4203_-29+4205del
NM_001082971.1:c.-29+4203_-29+4205del	NP_001076440.1:n.-29+4203_-29+4205del
XM_005271745.3:c.-29+4203_-29+4205del	XP_005271802.1:n.-29+4203_-29+4205del
XM_005271745.4:c.-29+4203_-29+4205del	XP_005271802.1:n.-29+4203_-29+4205del
NM_001082971.2:c.-29+4203_-29+4205del MANE Select	NP_001076440.2:n.-29+4203_-29+4205del